Daniela A. Braun
A5033314506- Genetic and Kidney Cyst Diseases
- Renal Diseases and Glomerulopathies
- Renal and related cancers
- Biomedical Research and Pathophysiology
- Protist diversity and phylogeny
- Fetal and Pediatric Neurological Disorders
- Kidney Stones and Urolithiasis Treatments
- Ion Transport and Channel Regulation
- Genetic Syndromes and Imprinting
- Pediatric Urology and Nephrology Studies
- Chronic Kidney Disease and Diabetes
- Epigenetics and DNA Methylation
- Nuclear Structure and Function
- Renal Transplantation Outcomes and Treatments
- Microtubule and mitosis dynamics
- Diet and metabolism studies
- Cellular transport and secretion
- Cystic Fibrosis Research Advances
- Diet, Metabolism, and Disease
- Hedgehog Signaling Pathway Studies
- Neonatal Respiratory Health Research
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Hippo pathway signaling and YAP/TAZ
- Complement system in diseases
- Cytomegalovirus and herpesvirus research
University Hospital Münster
2014-2024
Boston Children's Hospital
2013-2022
Harvard University
2013-2022
Yale New Haven Hospital
2018
Rockefeller University
2018
Sheba Medical Center
2018
University of Washington
2016
Howard Hughes Medical Institute
2016
Washington Center
2016
St George's, University of London
2014
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly maintenance. All six IFT-A components their motor protein, DYNC2H1, have been linked human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, Mainzer-Saldino syndrome (MZSDS). Conversely, the 14 subunits in IFT-B module, with exception of IFT80, unknown roles disease. To...
Background and objectives Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified cause steroid-resistant syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with Panel has a number limitations when compared whole exome sequencing. employed detect causes an international cohort 300 families. Design, setting, participants, & measurements Three hundred thirty-five...
Nephrolithiasis is a prevalent condition with high morbidity. Although dozens of monogenic causes have been identified, the fraction single-gene disease has not well studied. To determine percentage cases that can be molecularly explained by mutations in 1 30 known kidney stone genes, we conducted high-throughput mutation analysis cohort consecutively recruited patients from typical clinics. The comprised 272 genetically unresolved individuals (106 children and 166 adults) 268 families...
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 over 40 monogenic genes can be detected approximately 30% individuals with SRNS whose symptoms manifest before 25 years age. However, many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive SRNS. In 7 families and facultative ichthyosis, adrenal insufficiency, immunodeficiency, neurological defects, identified 9 different...
Background Congenital anomalies of the kidney and urinary tract (CAKUT) are most prevalent cause disease in first three decades life. Previous gene panel studies showed monogenic causation up to 12% patients with CAKUT. Methods We applied whole-exome sequencing analyze genotypes individuals from 232 families CAKUT, evaluating for mutations single genes known human CAKUT mice. In consanguineous or multiplex families, we additionally performed a search novel causes Results 29 (13%), detected...
Significance Statement Case reports describe scenarios in which previously undiagnosed genetic disorders, such as primary hyperoxaluria type 1, caused early allograft failure kidney transplant recipients. Whole-exome sequencing (WES) has found that approximately 20% of pediatric patients with CKD have a relevant mutation, but the diagnostic yield WES recipients is not known. In this study 104 at single center, use provided molecular diagnosis for 34 out (32.7%) patients. Such diagnoses...
Nephrolithiasis is a prevalent condition that affects 10%-15% of adults in their lifetime. It associated with high morbidity due to colicky pain, the necessity for surgical intervention, and sometimes progression CKD. In recent years, multiple monogenic causes nephrolithiasis nephrocalcinosis have been identified. However, prevalence each gene pediatric renal stone cohort has not yet extensively studied.To determine percentage cases can be explained molecularly by mutations one 30 known...
Steroid-resistant nephrotic syndrome (SRNS) almost invariably progresses to end-stage renal disease. Although more than 50 monogenic causes of SRNS have been described, a large proportion remains unexplained. Recently, it was discovered that mutations NUP93 and NUP205, encoding 2 proteins the inner ring subunit nuclear pore complex (NPC), cause SRNS. Here, we describe in genes 4 components outer rings NPC, namely NUP107, NUP85, NUP133, NUP160, 13 families with Using coimmunoprecipitation...
Abstract Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease (CKD). Here we show that recessive mutations in FAT1 cause a distinct renal entity four families with combination SRNS, tubular ectasia, haematuria and facultative neurological involvement. Loss results decreased cell adhesion migration fibroblasts podocytes the is partially reversed by RAC1/CDC42 activator. Podocyte-specific deletion Fat1 mice induces abnormal glomerular filtration barrier development,...
No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS 17 families with partially treatment-sensitive (pTSNS). These proteins interact and delineate their roles Rho-like small GTPase (RLSG) activity, demonstrate deficiency mutants pTSNS patients. We find that CDK20 regulates DLC1. Knockdown MAGI2, or cultured podocytes reduces migration rate....
Damage to and loss of glomerular podocytes has been identified as the culprit lesion in progressive kidney diseases. Here, we combine mass spectrometry-based proteomics with mRNA sequencing, bioinformatics, hypothesis-driven studies provide a comprehensive quantitative map mammalian that identifies unanticipated signaling pathways. Comparison vivo datasets data from podocyte cell cultures showed limited value available culture models. Moreover, stable isotope labeling by amino acids...
Abstract N 6 -threonyl-carbamoylation of adenosine 37 ANN-type tRNAs (t A) is a universal modification essential for translational accuracy and efficiency. The t A pathway uses two sequentially acting enzymes, YRDC OSGEP, the latter being subunit multiprotein KEOPS complex. We recently identified mutations in genes encoding four out five subunits children with Galloway-Mowat syndrome (GAMOS), clinically heterogeneous autosomal recessive disease characterized by early-onset steroid-resistant...